Department of Neurology, Washington University in St. Louis, St Louis, Missouri.
Department of Neurosurgery, Washington University in St. Louis, St. Louis, Missouri.
Pediatr Neurol. 2020 May;106:32-37. doi: 10.1016/j.pediatrneurol.2019.12.005. Epub 2020 Jan 21.
Chiari malformation type 1 affects approximately one in 1,000 people symptomatically, although one in 100 meet radiological criteria, making it a common neurological disorder. The diagnosis of underlying conditions has become more sophisticated, and new radiological markers of disease have been described. We sought to determine the prevalence and impact of additional comorbidities and underlying diagnoses in patients with Chiari malformation type 1 on symptomatology and surgical treatment.
A retrospective review of 612 pediatric patients with a Chiari malformation type 1 diagnosis and imaging data evaluated between 2008 and 2018 was performed. Because of extensive clinical heterogeneity, patients were separated into four categories based on their primary comorbidities (nonsyndromic, central nervous system, skeletal, and multiple congenital anomalies) to identify associations with age of onset, radiographic measurements, syringomyelia, and surgical treatment.
The largest group had nonsyndromic Chiari malformation type 1 (70%) and the latest age at diagnosis of any group. In the syndromic group, 6% were diagnosed with a known genetic abnormality, with overgrowth syndromes being the most common. Patients with multiple congenital anomalies had the earliest Chiari malformation type 1 onset, the most severe tonsillar ectopia and obex position, and were overrepresented among surgical cases. Although there were no statistically significant differences between groups and rates of syrinx, we observed differences in individual diagnoses.
The underlying diagnoses and presence of comorbidities in patients with Chiari malformation type 1 impacts rates of syringomyelia and surgery. Although most Chiari malformation type 1 cases are nonsyndromic, clinical evaluation of growth parameters, scoliosis, and joint hypermobility should be routine for all patients as they are useful to determine syringomyelia risk and may impact treatment.
Chiari 畸形 1 型在有症状的人群中约占 1/1000，尽管有 1/100 人符合放射学标准，但它仍是一种常见的神经疾病。对潜在疾病的诊断变得更加复杂，并且已经描述了疾病的新放射学标志物。我们旨在确定 Chiari 畸形 1 型患者中其他合并症和潜在诊断的患病率及其对症状和手术治疗的影响。
对 2008 年至 2018 年间进行 Chiari 畸形 1 型诊断和影像学数据评估的 612 例儿科患者进行回顾性研究。由于存在广泛的临床异质性，根据患者的主要合并症（非综合征型、中枢神经系统型、骨骼型和多种先天性异常型）将其分为四类，以确定与发病年龄、影像学测量、脊髓空洞症和手术治疗的相关性。
最大的一组为非综合征型 Chiari 畸形 1 型（70%），且任何一组的诊断年龄均最晚。在综合征型中，有 6%的患者被诊断出患有已知的遗传异常，其中以过度生长综合征最为常见。多种先天性异常型患者 Chiari 畸形 1 型的发病年龄最早，扁桃体最明显外突，延髓颈髓结合处位置最低，且手术病例数也最多。尽管各组之间和脊髓空洞症的发生率没有统计学差异，但我们观察到了个别诊断的差异。
Chiari 畸形 1 型患者的潜在诊断和合并症的存在会影响脊髓空洞症和手术的发生率。尽管大多数 Chiari 畸形 1 型病例为非综合征型，但生长参数、脊柱侧凸和关节过度活动的临床评估应作为所有患者的常规检查，因为这有助于确定脊髓空洞症的风险，并且可能影响治疗。
